Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants
Chang, Irene J., Sun, Angela, Bouchard, Maryse L., Kamps, Shawn E., Hale, Susan, Done, Stephen, Goldberg, Michael J., Glass, Ian A.Volume:
176
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38839
Date:
July, 2018
File:
PDF, 787 KB
english, 2018